{"Name":"Young syndrome","DiseaseID__c":"GARD:0000341","id":341,"encodedName":"young-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Young syndrome","Xref_IDs__c":"233666007; C0340037; C536718; MEDGEN:137934; MONDO:0010220; OMIM:279000; ORPHA:3471","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010220","Disease_Description__c":"A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause.","GARD_Name__c":"Young syndrome","GARD_Synonym__c":"azoospermia-sinopulmonary infections syndrome; azoospermia, obstructive and chronic sinopulmonary infections; azoospermia, obstructive, and chronic sinopulmonary infections; barry-perkins-young syndrome; cild55; ciliary dyskinesia, primary, 55; sinusitis-infertility syndrome; young's syndrome","Curated_Disease_Description_Source__c":"GARD:0000341","Curated_Disease_Description__c":"Young syndrome is a condition characterized by male infertility, damaged airways in the lungs (bronchiectasis), and inflammation of the sinuses (sinusitis). Male infertility in Young syndrome is secondary to obstructive azoospermia, a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid, due to a physical obstruction in the epididymis (tube through which sperm exit the testis). This results in nonexistent levels of sperm in semen. Young syndrome is typically diagnosed in men who undergo evaluation for infertility. As the signs and symptoms of Young syndrome are similar to cystic fibrosis (CF), part of the diagnosis process may include ruling out CF. The exact cause of Young syndrome has not been identified.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:3471","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010220","ORPHANET_ID__c":"ORPHA:3471","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de young","Spanish_Description_Source__c":"ORPHA:3471","Spanish_Description__c":"Es una enfermedad respiratoria poco frecuente caracterizada por infecciones sinopulmonares recurrentes y bronquiectasias predominantemente en los campos pulmonares inferiores, así como azoospermia con fertilidad reducida, debido a la producción de mucosidad espesa y viscosa que causa una ligera obstrucción del flujo de aire en el tracto respiratorio y del transporte de espermatozoides en el tracto genital. La enfermedad suele debutar en la edad adulta. La función de las glándulas sudoríparas y del páncreas no se ve alterada. La causa del síndrome es desconocida, aunque se ha propuesto la exposición al mercurio como una causa potencial.","Spanish_Disease_Name__c":"síndrome de young","Spanish_GARD_Synonym__c":"síndrome de azoospermia-infecciones sinopulmonares; síndrome de sinusitis-infertilidad","Category_Linearization__c":"ORPHA:97955","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Young syndrome is a condition characterized by male infertility, damaged airways in the lungs (bronchiectasis), and inflammation of the sinuses (sinusitis). Male infertility in Young syndrome is secondary to obstructive azoospermia, a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid, due to a physical obstruction in the epididymis (tube through which sperm exit the testis). This results in nonexistent levels of sperm in semen. Young syndrome is typically diagnosed in men who undergo evaluation for infertility. As the signs and symptoms of Young syndrome are similar to cystic fibrosis (CF), part of the diagnosis process may include ruling out CF. The exact cause of Young syndrome has not been identified.","Curated_Disease_Description_Source__c":"GARD:0000341","GARD_Synonym__c":"azoospermia-sinopulmonary infections syndrome; azoospermia, obstructive and chronic sinopulmonary infections; azoospermia, obstructive, and chronic sinopulmonary infections; barry-perkins-young syndrome; cild55; ciliary dyskinesia, primary, 55; sinusitis-infertility syndrome; young's syndrome","Name":"Young syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:3471"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340037","Source__c":"C0340037","Xref__c":"C0340037"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233666007","Source__c":"C0340037; MONDO:0010220","Xref__c":"233666007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137934","Source__c":"C0340037","Xref__c":"MEDGEN:137934"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536718","Source__c":"MONDO:0010220","Xref__c":"C536718"},{"URL__c":"https://www.omim.org/entry/279000","Source__c":"C0340037; MONDO:0010220; ORPHA:3471","Xref__c":"OMIM:279000"},{"URL__c":"https://www.orpha.net/en/disease/detail/3471","Source__c":"C0340037; MONDO:0010220; ORPHA:3471","Xref__c":"ORPHA:3471"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010220","Source__c":"GARD:0000341","Xref__c":"MONDO:0010220"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CFAP221","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002837","HPO_Synonym__c":"Bronchitis, recurrent","HPO_Name__c":"Recurrent bronchitis","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005425","HPO_Synonym__c":"Chronic sinopulmonary infection; Recurrent sinus and lung infections","HPO_Name__c":"Recurrent sinopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011962","HPO_Name__c":"Obstructive azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100582","HPO_Synonym__c":"Nasal polyps; Polyposis nasi; Polyps of nose","HPO_Name__c":"Nasal polyposis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034315","HPO_Name__c":"Chronic cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic form of sinusitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011109","HPO_Name__c":"Chronic sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic inflammation of the nasal mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002257","HPO_Name__c":"Chronic rhinitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Obstruction of conducting airways of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006536","HPO_Synonym__c":"Obstructive lung disease; Pulmonary obstruction","HPO_Name__c":"Airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of air a person can expel following maximal inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032341","HPO_Synonym__c":"Decreased forced vital capacity; Reduced FVC","HPO_Name__c":"Reduced forced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Urologist"],"Account":["Infertility"]},"synonyms":["azoospermia-sinopulmonary infections syndrome"," azoospermia, obstructive and chronic sinopulmonary infections"," azoospermia, obstructive, and chronic sinopulmonary infections"," barry-perkins-young syndrome"," cild55"," ciliary dyskinesia, primary, 55"," sinusitis-infertility syndrome"," young's syndrome"]}